Desmoplastic myxoid tumor, SMARCB1-mutant: clinical, histopathological and molecular characterization of a pineal region tumor encountered in adolescents and adults.

doi:10.1007/s00401-019-02094-w

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Article

Desmoplastic myxoid tumor, SMARCB1-mutant: clinical, histopathological and molecular characterization of a pineal region tumor encountered in adolescents and adults.

Acta neuropathologica - 1 Feb 2020

Thomas Christian, Wefers Annika, Bens Susanne, Nemes Karolina, Agaimy Abbas, Oyen Florian, Vogelgesang Silke, Rodriguez Fausto J, Brett Francesca M, McLendon Roger, Bodi Istvan, Burel-Vandenbos Fanny, Keyvani Kathy, Tippelt Stefan, Poulsen Frantz R, Lipp Eric S, Giannini Caterina, Reifenberger Guido, Kuchelmeister Klaus, Pietsch Torsten, Kordes Uwe, Siebert Reiner, Frühwald Michael C, Johann Pascal D, Sill Martin, Kool Marcel, von Deimling Andreas, Paulus Werner, Hasselblatt Martin

Abstract excerpt

Atypical teratoid/rhabdoid tumor (ATRT) is a highly malignant brain tumor predominantly occurring in infants. Mutations of the SMARCB1 gene are the characteristic genetic lesion. SMARCB1-mutant tumors in adolescents and adults are rare and may show uncommon histopathological and clinical features. Here we report seven SMARCB1-deficient intracranial tumors sharing distinct clinical, histopathological and molecular...

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PMID: 31732806
DOI: 10.1007/s00401-019-02094-w

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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